about
A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study.Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH.Newborn screening for Fabry disease in the north-west of Spain.Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine-impregnated paper: preliminary results of an improved DMB-based procedure.Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia.The TSH threshold in neonatal screening for congenital hypothyroidism: a variable solution.Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case reportThree novel mutations in the CFTR gene identified in Galician patientsEvaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programmeNewborn screening in Spain, with particular reference to Galicia: Echoes of Louis I. WoolfEnzyme-Loaded Gel Core Nanostructured Lipid Carriers to Improve Treatment of Lysosomal Storage Diseases: Formulation and In Vitro Cellular Studies of Elosulfase Alfa-Loaded Systems
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Cristóbal Colón
@ast
Cristóbal Colón
@en
Cristóbal Colón
@es
Cristóbal Colón
@nl
type
label
Cristóbal Colón
@ast
Cristóbal Colón
@en
Cristóbal Colón
@es
Cristóbal Colón
@nl
prefLabel
Cristóbal Colón
@ast
Cristóbal Colón
@en
Cristóbal Colón
@es
Cristóbal Colón
@nl
P106
P21
P31
P496
0000-0002-9711-2812